Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SPRY3_chrX_155607586_155787459	155767720	A A	AAGAGGAG others(14): Show AAGAGGAGGAGTAGGAGGAGAG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0121 a0001c0002t0121	a0001c0002t0121g0148 a0001c0002t0121g0148	1	112	0.0089	21	c.-28 others(38): Show c.-281-232_-281-231insTAGGAGGAGAGAGAGGAGGAG		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767724	G G	GGCGGAGG others(14): Show GGCGGAGGAGGAGGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02738.hp1 HG00280.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0128 a0001c0001t0002g0202 a0001c0001t0001g0128 a0001c0001t0002g0202	2	173	0.0116	21	c.-28 others(38): Show c.-281-237_-281-236insCGGAGGAGGAGGAGAAAGAAG		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767739	A A	AGAAGAGG others(14): Show AGAAGAGGAGGAGGAGAAAGAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0170 a0001c0001t0113g0170	1	227	0.0044	21	c.-28 others(38): Show c.-281-221_-281-220insAGAGGAGGAGGAGAAAGAGGA		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPSB1_chr1_9287894_9374532	9361156	C C	CCTTTTTT others(14): Show CCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(12): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG02027.hp1 HG02055.hp2 HG02083.hp1 HG02155.hp1 HG04204.hp2 NA18522.hp2 NA18973.hp2 NA18975.hp1 NA19000.hp1 NA19000.hp2 NA19064.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0041	a0001c0001t0002g0286 a0001c0001t0003g0094 a0001c0001t0003g0186 others(12): Show a0001c0001t0002g0286 a0001c0001t0003g0094 a0001c0001t0003g0186 a0001c0001t0004g0210 a0001c0001t0004g0242 a0001c0001t0004g0263 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0324 a0001c0001t0004g0353 a0001c0001t0006g0110 a0001c0001t0007g0166 a0001c0001t0017g0137 a0001c0001t0017g0207 a0001c0001t0041g0316	15	56	0.2679	21	c.694 others(38): Show c.694+4571_694+4572insCTTTTTTTTTTTTTTTTTTTT		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2						chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTATTTT others(14): Show ATTATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	163	0.0061	21	c.258 others(40): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAATAA		SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51						chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02155.hp1 HG04184.hp2 others(6): Show HG00639.hp1 HG02155.hp1 HG04184.hp2 NA18960.hp1 NA18986.hp2 NA19004.hp1 NA19004.hp2 NA19077.hp2 NA19085.hp2	a0001 a0003 a0069 a0001 a0003 a0069	a0001c0001 a0001c0004 a0003c0005 others(1): Show a0001c0001 a0001c0004 a0003c0005 a0069c0091	a0001c0001t0002 a0001c0001t0005 a0001c0004t0006 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0004t0006 a0003c0005t0022 a0069c0091t0002	a0001c0001t0002g0003 a0001c0001t0002g0059 a0001c0001t0002g0060 others(5): Show a0001c0001t0002g0003 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0123 a0001c0001t0005g0111 a0001c0004t0006g0181 a0003c0005t0022g0052 a0069c0091t0002g0061	9	171	0.0526	21	c.258 others(40): Show c.2587+1671_2587+1691dupAAAAAAAAAAAAAAAAAAAAA		SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51						chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18975.hp1 NA18955.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0142 a0001c0001t0001g0072 a0001c0001t0001g0142	2	23	0.0870	21	c.-3- others(36): Show c.-3-5070_-3-5050dupAAAAAAAAAAAAAAAAAAAAA		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570330	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0275 a0002c0004t0002g0275	1	202	0.0050	21	c.363 others(38): Show c.363+1434_363+1435insATATATATATATATTTTTTTT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54487832	C C	CTCTTTTT others(14): Show CTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01071.hp2 HG01261.hp1 others(8): Show HG00438.hp2 HG01071.hp2 HG01261.hp1 HG01981.hp1 HG03688.hp2 NA18952.hp1 NA19005.hp2 NA19054.hp1 NA19067.hp2 NA19079.hp1 NA20905.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0004 a0001c0033 others(1): Show a0001c0001 a0001c0004 a0001c0033 a0010c0032	a0001c0001t0002 a0001c0001t0004 a0001c0001t0041 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0041 a0001c0004t0007 a0001c0004t0010 a0001c0033t0007 a0010c0032t0004	a0001c0001t0002g0095 a0001c0001t0004g0091 a0001c0001t0004g0125 others(8): Show a0001c0001t0002g0095 a0001c0001t0004g0091 a0001c0001t0004g0125 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0041g0247 a0001c0004t0007g0173 a0001c0004t0010g0109 a0001c0004t0010g0342 a0001c0033t0007g0248 a0010c0032t0004g0327	11	12	0.9167	21	c.-48 others(40): Show c.-48+31315_-48+31316insCTTTTTTTTTTTTTTTTTTTT		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54487832	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG01256.hp2 others(9): Show HG00408.hp2 HG00423.hp2 HG01256.hp2 HG01361.hp2 HG02071.hp2 HG02622.hp2 HG03516.hp1 HG04228.hp2 NA18956.hp1 NA18969.hp2 NA18985.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0001c0017 a0001c0019	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 a0001c0005t0003 a0001c0007t0001 a0001c0017t0002 a0001c0019t0012	a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0033 others(9): Show a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0033 a0001c0001t0002g0130 a0001c0001t0002g0209 a0001c0001t0004g0001 a0001c0001t0005g0340 a0001c0001t0020g0032 a0001c0005t0003g0004 a0001c0007t0001g0302 a0001c0017t0002g0226 a0001c0019t0012g0246	12	13	0.9231	21	c.-48 others(40): Show c.-48+31329_-48+31330insTTTTTTTTTTTTTTTTTTTTT		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54581577	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0200 a0002c0006t0003g0200	1	63	0.0159	21	c.149 others(40): Show c.149-17512_149-17492dupTTTTTTTTTTTTTTTTTTTTT		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40562127	G G	GGCACTGG others(14): Show GGCACTGGGGCCCTGGAAACCA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	232	0.0043	21	c.591 others(40): Show c.5915+1725_5915+1745dupGCACTGGGGCCCTGGAAACCA		SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	27/35					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01517.hp2 NA18956.hp1 HG01167.hp2 HG01517.hp2 NA18956.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0004 a0001c0022t0004	a0001c0022t0004g0096 a0001c0022t0004g0144 a0001c0022t0004g0252 a0001c0022t0004g0096 a0001c0022t0004g0144 a0001c0022t0004g0252	3	153	0.0196	21	c.660 others(40): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTTTT		SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35						chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(14): Show CTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	26	0.0385	21	c.130 others(40): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAGAAA		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11						chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77531469	T T	TCCTCCTC others(14): Show TCCTCCTCCCCCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01256.hp2 others(1): Show HG01069.hp1 HG01071.hp2 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(1): Show a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008	4	234	0.0171	21	c.130 others(40): Show c.1304-9889_1304-9888insGGGAGGGGGAGGGGGAGGAGG		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11						chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77587759	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0131 a0001c0001t0014g0131	1	131	0.0076	21	c.328 others(38): Show c.328-8671_328-8651dupATTATTATTATTATTATTATT		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11						chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18610686	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02970.hp2 HG02965.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0003 a0001c0001t0025	a0001c0001t0003g0253 a0001c0001t0025g0260 a0001c0001t0003g0253 a0001c0001t0025g0260	2	435	0.0046	21	c.196 others(38): Show c.1965-733_1965-732insGTTTTTTTTTTTTTTTTTTTT		SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	5/5						chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01928.hp2 HG02004.hp1 others(20): Show HG00673.hp2 HG01928.hp2 HG02004.hp1 HG02080.hp2 HG02129.hp1 HG02602.hp1 HG03688.hp2 HG03710.hp1 NA18747.hp1 NA18944.hp1 NA18965.hp2 NA18969.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18992.hp1 NA18997.hp2 NA19054.hp1 NA19055.hp1 NA19078.hp1 NA19080.hp1 NA19090.hp1 NA19091.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0003 a0008c0013 a0001c0001 a0002c0003 a0008c0013	a0001c0001t0001 a0001c0001t0006 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0003t0001 a0008c0013t0001	a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0275 others(19): Show a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0275 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0341 a0001c0001t0001g0345 a0001c0001t0001g0352 a0001c0001t0001g0364 a0001c0001t0006g0276 a0001c0001t0006g0277 a0002c0003t0001g0015 a0002c0003t0001g0059 a0002c0003t0001g0068 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0081 a0008c0013t0001g0363	23	222	0.1036	21	c.61- others(36): Show c.61-5098_61-5097insTTTTTTTTTTTTTTTTTTTTT		SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5						chr11	TogoVar
SQSTM1_chr5_179815905_179843078	179834041	T T	TAAAACTT others(14): Show TAAAACTTAACATGCAGACCAG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	460	0.0022	21	c.116 others(38): Show c.1165+260_1165+280dupAAAACTTAACATGCAGACCAG		SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
SRBD1_chr2_45383680_45616267	45571516	C C	CCAAAAAA others(14): Show CCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp1 HG02818.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0134 a0001c0001t0002g0133 a0001c0001t0001g0134 a0001c0001t0002g0133	2	354	0.0056	21	c.130 others(40): Show c.1305+1670_1305+1690dupTTTTTTTTTTTTTTTTTTTTG		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20						chr2	TogoVar
SRBD1_chr2_45383680_45616267	45571517	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01975.hp1 HG00738.hp1 HG01975.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0200 a0003c0003t0001g0004 a0001c0001t0002g0200 a0003c0003t0001g0004	2	117	0.0171	21	c.130 others(40): Show c.1305+1669_1305+1689dupTTTTTTTTTTTTTTTTTTTTT		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20						chr2	TogoVar
SRCAP_chr16_30694171_30746409	30730338	C C	CGCTTAAA others(14): Show CGCTTAAACCACAAGAGCATTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0003 a0001c0005 others(20): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0020 a0001c0024 a0001c0025 a0002c0004 a0002c0013 a0003c0008 a0005c0009 a0006c0010 a0008c0021 a0009c0022 a0010c0023 a0011c0026 a0012c0019 a0013c0018 a0014c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0003t0002 a0001c0005t0001 a0001c0007t0006 a0001c0011t0001 a0001c0014t0001 a0001c0015t0002 a0001c0016t0001 a0001c0020t0002 a0001c0024t0001 a0001c0025t0002 a0002c0004t0001 a0002c0004t0004 a0002c0013t0001 a0003c0008t0002 a0005c0009t0001 a0006c0010t0001 a0008c0021t0002 a0009c0022t0002 a0010c0023t0002 a0011c0026t0001 a0012c0019t0001 a0013c0018t0001 a0014c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(152): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0144 a0001c0001t0004g0011 a0001c0001t0004g0013 a0001c0001t0004g0035 a0001c0001t0004g0110 a0001c0001t0005g0010 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0007g0102 a0001c0001t0009g0077 a0001c0001t0010g0140 a0001c0003t0002g0015 a0001c0003t0002g0033 a0001c0003t0002g0103 a0001c0003t0002g0104 a0001c0003t0002g0105 a0001c0003t0002g0153 a0001c0005t0001g0132 a0001c0005t0001g0133 a0001c0005t0001g0134 a0001c0005t0001g0136 a0001c0007t0006g0024 a0001c0007t0006g0025 a0001c0007t0006g0026 a0001c0011t0001g0150 a0001c0014t0001g0034 a0001c0015t0002g0032 a0001c0016t0001g0151 a0001c0020t0002g0095 a0001c0024t0001g0111 a0001c0025t0002g0046 a0002c0004t0001g0002 a0002c0004t0001g0023 a0002c0004t0004g0002 a0002c0013t0001g0155 a0003c0008t0002g0056 a0003c0008t0002g0098 a0003c0008t0002g0099 a0005c0009t0001g0002 a0006c0010t0001g0118 a0006c0010t0001g0127 a0008c0021t0002g0093 a0009c0022t0002g0079 a0010c0023t0002g0060 a0011c0026t0001g0051 a0012c0019t0001g0002 a0013c0018t0001g0019 a0014c0017t0001g0009	196	206	0.9515	21	c.612 others(38): Show c.6127+766_6127+767insGCTTAAACCACAAGAGCATTT		SRCAP	ENSG00000080603.17	transcript	ENST00000262518.9	protein_coding	27/33						chr16	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTTCGTTT others(14): Show TTTCGTTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01255.hp1 HG01975.hp2 others(1): Show HG01106.hp1 HG01255.hp1 HG01975.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0002 a0001c0001t0001g0020	4	19	0.2105	21	c.345 others(38): Show c.345+1344_345+1345insGGAAGGAAGGAAGGAAACGAA		SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18						chr17	TogoVar
SRC_chr20_37341140_37411050	37372210	T T	TGTCGCTT others(14): Show TGTCGCTTAGGCTAGTCTTGAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00609.hp1 others(97): Show HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00642.hp1 HG00741.hp1 HG01106.hp2 HG01167.hp1 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18962.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18985.hp1 NA18994.hp1 NA19007.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19080.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0002t0011 a0001c0003t0011 a0001c0003t0023 a0001c0004t0038 a0001c0004t0048 a0001c0007t0040	a0001c0001t0001g0016 a0001c0001t0001g0059 a0001c0001t0001g0060 others(96): Show a0001c0001t0001g0016 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0238 a0001c0001t0001g0264 a0001c0001t0002g0006 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0109 a0001c0001t0002g0149 a0001c0001t0002g0211 a0001c0001t0002g0234 a0001c0001t0002g0245 a0001c0001t0002g0275 a0001c0001t0004g0001 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0048 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0151 a0001c0001t0004g0224 a0001c0001t0004g0254 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0005g0014 a0001c0001t0005g0088 a0001c0001t0005g0110 a0001c0001t0005g0138 a0001c0001t0005g0232 a0001c0001t0005g0237 a0001c0001t0005g0274 a0001c0001t0006g0008 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0067 a0001c0001t0006g0071 a0001c0001t0008g0080 a0001c0001t0008g0081 a0001c0001t0008g0082 a0001c0001t0008g0226 a0001c0001t0010g0025 a0001c0001t0010g0026 a0001c0001t0010g0120 a0001c0001t0010g0267 a0001c0001t0011g0273 a0001c0001t0012g0034 a0001c0001t0012g0036 a0001c0001t0012g0037 a0001c0001t0012g0038 a0001c0001t0013g0057 a0001c0001t0013g0118 a0001c0001t0013g0137 a0001c0001t0014g0150 a0001c0001t0014g0208 a0001c0001t0015g0017 a0001c0001t0015g0018 a0001c0001t0016g0124 a0001c0001t0016g0125 a0001c0001t0020g0058 a0001c0001t0020g0111 a0001c0001t0022g0272 a0001c0001t0024g0271 a0001c0001t0027g0147 a0001c0001t0029g0243 a0001c0001t0033g0236 a0001c0001t0034g0093 a0001c0001t0035g0072 a0001c0001t0036g0233 a0001c0001t0039g0012 a0001c0001t0042g0066 a0001c0001t0046g0069 a0001c0001t0047g0235 a0001c0001t0049g0258 a0001c0001t0050g0123 a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0003t0011g0053 a0001c0003t0023g0265 a0001c0004t0038g0068 a0001c0004t0048g0263 a0001c0007t0040g0011	100	280	0.3571	21	c.-17 others(40): Show c.-173+6933_-173+6934insGTCGCTTAGGCTAGTCTTGAA		SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13						chr20	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0236 a0001c0001t0013g0236	1	194	0.0052	21	c.91+ others(36): Show c.91+7521_91+7522insATATATATATATATATATATT		SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18						chr17	TogoVar
SREK1IP1_chr5_64713148_64773691	64727554	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0068 a0001c0003t0008g0068	1	340	0.0029	21	c.278 others(36): Show c.278+552_278+553insTATATATATATATATATATAT		SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	4/4						chr5	TogoVar
SREK1IP1_chr5_64713148_64773691	64731521	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02615.hp2 others(2): Show HG02055.hp1 HG02486.hp1 HG02615.hp2 HG02647.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0014 a0001c0003t0005g0045 a0001c0003t0005g0046 others(1): Show a0001c0003t0005g0014 a0001c0003t0005g0045 a0001c0003t0005g0046 a0001c0003t0005g0050	5	280	0.0179	21	c.206 others(38): Show c.206-3343_206-3342insTTTTTTTTTTTTTTTTTTTTT		SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	3/4						chr5	TogoVar
SRF_chr6_43166269_43186506	43177228	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02809.hp1 HG01243.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0007 a0001c0001t0012	a0001c0001t0007g0028 a0001c0001t0012g0028 a0001c0001t0007g0028 a0001c0001t0012g0028	2	174	0.0115	21	c.116 others(38): Show c.1162+578_1162+579insTTTTTTTTTTTTTTTTTTTTT		SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
SRGAP1_chr12_63839700_64167217	63951152	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0132 a0001c0007t0132	a0001c0007t0132g0103 a0001c0007t0132g0103	1	20	0.0500	21	c.68- others(38): Show c.68-32786_68-32766dupTTTTTTTTTTTTTTTTTTTTT		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64144233	T T	TTTGTTGT others(14): Show TTTGTTGTTGTTGTTGTTGTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG01361.hp1 HG02132.hp1 others(19): Show HG01243.hp2 HG01361.hp1 HG02132.hp1 HG02257.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03239.hp1 HG03492.hp2 NA18522.hp1 NA18971.hp1 NA18984.hp1 NA18988.hp2 NA19057.hp1 NA19060.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0010 a0001c0001t0085 a0001c0001t0091 others(15): Show a0001c0001t0010 a0001c0001t0085 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0139 a0001c0003t0002 a0001c0003t0087 a0001c0003t0088 a0001c0003t0089 a0001c0003t0099 a0002c0004t0090	a0001c0001t0010g0157 a0001c0001t0085g0102 a0001c0001t0091g0105 others(19): Show a0001c0001t0010g0157 a0001c0001t0085g0102 a0001c0001t0091g0105 a0001c0001t0092g0033 a0001c0001t0093g0052 a0001c0001t0094g0010 a0001c0001t0095g0064 a0001c0001t0096g0022 a0001c0001t0097g0129 a0001c0001t0098g0074 a0001c0001t0100g0123 a0001c0001t0139g0092 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0065 a0001c0003t0002g0079 a0001c0003t0002g0081 a0001c0003t0087g0066 a0001c0003t0088g0160 a0001c0003t0089g0008 a0001c0003t0099g0017 a0002c0004t0090g0032	22	124	0.1774	21	c.15 others(32): Show c.1562_*1582dupTTGTTGTTGTTGTTGTTGTTG		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22				1583	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64150934	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG03927.hp2 HG02451.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0113 a0001c0006t0083 a0001c0001t0113 a0001c0006t0083	a0001c0001t0113g0122 a0001c0006t0083g0018 a0001c0001t0113g0122 a0001c0006t0083g0018	2	66	0.0303	21	c.82 others(32): Show c.8268_*8288dupAAAAAAAAAAAAAAAAAAAAA		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22				8289	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRMS_chr20_63533489_63552749	63536007	A A	ACTGGCCT others(14): Show ACTGGCCTCCGCCCCCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0017 a0001c0001t0014g0017	1	351	0.0028	21	c.48 others(32): Show c.4810_*4811insAGAGGAGGGGGCGGAGGCCAG		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding					2481		chr20	TogoVar
SRP54_chr14_34977992_35034567	35007674	T T	TTAAAATA others(14): Show TTAAAATATATTTATATTATAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	393	0.0025	21	c.360 others(36): Show c.360+300_360+301insTATTATAATAAAATATATTTA		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	35014290	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02056.hp1 HG02135.hp2 others(15): Show HG00597.hp2 HG02056.hp1 HG02135.hp2 HG02486.hp1 NA18943.hp1 NA18955.hp2 NA18964.hp1 NA18966.hp2 NA18979.hp2 NA18988.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19006.hp1 NA19054.hp1 NA19070.hp1 NA19083.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0299 others(15): Show a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0299 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0329 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0336 a0001c0001t0002g0344 a0001c0001t0002g0363 a0001c0001t0002g0372 a0001c0001t0002g0376	18	200	0.0900	21	c.886 others(36): Show c.886+392_886+393insTTTTTTTTTTTTTTTTGTTTT		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062503	A A	ATATATAA others(14): Show ATATATAATATACATTATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01433.hp2 others(7): Show HG00323.hp2 HG01167.hp1 HG01433.hp2 HG01891.hp1 HG02647.hp2 HG04228.hp1 NA18906.hp1 NA19043.hp1 NA19081.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0011 a0001c0001t0002g0085 a0001c0001t0002g0098 others(6): Show a0001c0001t0002g0011 a0001c0001t0002g0085 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0121 a0001c0001t0002g0176 a0001c0001t0002g0185 a0001c0002t0001g0199 a0001c0002t0001g0201	10	346	0.0289	21	c.562 others(36): Show c.562-950_562-930dupATATATAATGTATATTATATA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76062545	T T	TTATATAA others(14): Show TTATATAATATACATTATATAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03225.hp1 HG02895.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0319 a0001c0002t0001g0320	2	357	0.0056	21	c.562 others(36): Show c.562-972_562-971insTTATATAATGTATATTATATA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76062575	A A	ATACATTA others(14): Show ATACATTATATATTATATAATG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	362	0.0028	21	c.562 others(38): Show c.562-1002_562-1001insCATTATATAATATATAATGTA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76062587	A A	ATATATAA others(14): Show ATATATAATATACATTATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02071.hp2 HG02080.hp1 others(25): Show HG00673.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp2 NA18950.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18977.hp1 NA18983.hp2 NA18990.hp1 NA18997.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19058.hp2 NA19063.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19087.hp1 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0205 others(18): Show a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0205 a0001c0002t0001g0216 a0001c0002t0001g0220 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0255 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0263 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0327 a0001c0002t0004g0221	28	171	0.1637	21	c.562 others(38): Show c.562-1034_562-1014dupATATATAATGTATATTATATA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76062615	A A	ATATACAT others(14): Show ATATACATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	302	0.0033	21	c.562 others(38): Show c.562-1042_562-1041insATATATAATATATAATGTATA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP72_chr4_56462617_56508681	56484026	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02040.hp2 HG02630.hp1 others(2): Show HG01070.hp1 HG02040.hp2 HG02630.hp1 NA18939.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0015 a0001c0004t0004 a0001c0001t0015 a0001c0004t0004	a0001c0001t0015g0159 a0001c0004t0004g0184 a0001c0004t0004g0192 others(2): Show a0001c0001t0015g0159 a0001c0004t0004g0184 a0001c0004t0004g0192 a0001c0004t0004g0199 a0001c0004t0004g0200	5	138	0.0362	21	c.958 others(36): Show c.958-705_958-685dupTTTTTTTTTTTTTTTTTTTTT		SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG02896.hp1 others(3): Show HG02622.hp1 HG02809.hp1 HG02896.hp1 HG03831.hp2 NA18947.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0071 a0001c0001t0001g0331 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0071 a0001c0001t0001g0331 a0001c0001t0003g0034	6	93	0.0645	21	c.478 others(38): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTTTTT		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15						chr6	TogoVar
SRPK2_chr7_105111374_105393921	105159448	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	153	0.0065	21	c.621 others(38): Show c.621+1038_621+1058dupTTTTTTTTTTTTTTTTTTTTT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15						chr7	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	15	0.0667	21	c.164 others(38): Show c.164-4808_164-4807insTTTTTTTTTTTTTTTTTTTTT		SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRD_chr22_26478877_26499658	26483980	G G	GGAGGCGG others(14): Show GGAGGCGGCGCCCCGGGGGAGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0021 a0004c0007t0021	a0004c0007t0021g0110 a0004c0007t0021g0110	1	70	0.0143	21	c.129 others(28): Show c.129_149dupGAGAGAGGCGGCGCCCCGGGG	p.Gly others(32): Show p.Gly50_Pro51insArgGluAlaAlaProArgGly	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding	1/7	164/4020	150/1020	50/339		INFO_REALIGN_3_PRIME	chr22	TogoVar
SRRM1_chr1_24638302_24678281	24652029	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0258 a0001c0001t0007g0258	1	73	0.0137	21	c.726 others(36): Show c.726-405_726-404insTATATATATATATATATATAT		SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	6/16						chr1	TogoVar
SRRM1_chr1_24638302_24678281	24676051	A A	ATTTTTAT others(14): Show ATTTTTATTTTTTTTTATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0275 a0001c0001t0006g0275	1	127	0.0079	21	c.37 others(32): Show c.3765_*3766insTTTTTATTTTTTTTTATTTTT		SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding					2771		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24676051	A A	ATTTTTAT others(14): Show ATTTTTATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02486.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0043 a0001c0001t0006g0043	2	128	0.0156	21	c.37 others(32): Show c.3765_*3766insTTTTTATTTTTTTTTTTTTTT		SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding					2771		chr1	TogoVar
SRRM3_chr7_76196896_76292287	76221359	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0281 a0002c0006t0001g0281	1	138	0.0072	21	c.-39 others(40): Show c.-39-13668_-39-13648dupTTTTTTTTTTTTTTTTTTTTT		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76236005	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	117	0.0085	21	c.233 others(36): Show c.233+711_233+731dupAAAAAAAAAAAAAAAAAAAAA		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76277746	G G	GAGAAAGA others(14): Show GAGAAAGAAAGAAAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01891.hp2 others(13): Show HG01243.hp1 HG01884.hp2 HG01891.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02735.hp1 HG02897.hp1 HG02976.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0008c0020	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0001c0005t0005 a0002c0002t0002 a0008c0020t0001	a0001c0001t0001g0320 a0001c0001t0002g0219 a0001c0001t0002g0223 others(13): Show a0001c0001t0001g0320 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0005t0002g0229 a0001c0005t0005g0216 a0001c0005t0005g0217 a0001c0005t0005g0218 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0008c0020t0001g0037	16	126	0.1270	21	c.100 others(40): Show c.1009-3694_1009-3693insGAAAGAAAGAAAAAAGAAAAA		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results